Universität zu Köln

Etich, Julia ORCID: 0000-0003-3238-6692, Rehberg, Mirko, Eckes, Beate, Sengle, Gerhard, Semler, Oliver and Zaucke, Frank ORCID: 0000-0002-7680-9354 (2020). Signaling pathways affected by mutations causing osteogenesis imperfecta. Cell. Signal., 76. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1873-3913

Full text not available from this repository.

Abstract

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder characterized by bone fragility and skeletal deformity. To maintain skeletal strength and integrity, bone undergoes constant remodeling of its extracellular matrix (ECM) tightly controlled by osteoclast-mediated bone resorption and osteoblast-mediated bone formation. There are at least 20 recognized OI-forms caused by mutations in the two collagen type I-encoding genes or genes implicated in collagen folding, posttranslational modifications or secretion of collagen, osteoblast differentiation and function, or bone mineralization. The underlying disease mechanisms of non-classical forms of OI that are not caused by collagen type I mutations are not yet completely understood, but an altered ECM structure as well as disturbed intracellular homeostasis seem to be the main defects. The ECM orchestrates local cell behavior in part by regulating bioavailability of signaling molecules through sequestration, release and activation during the constant bone remodeling process. Here, we provide an overview of signaling pathways that are associated with known OI-causing genes and discuss the impact of these genes on signal transduction. These pathways include WNT-, RANK/RANKL-, TGF beta-, MAPKand integrin-mediated signaling as well as the unfolded protein response.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Etich, Julia UNSPECIFIED orcid.org/0000-0003-3238-6692 UNSPECIFIED Rehberg, Mirko UNSPECIFIED UNSPECIFIED UNSPECIFIED Eckes, Beate UNSPECIFIED UNSPECIFIED UNSPECIFIED Sengle, Gerhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED Zaucke, Frank UNSPECIFIED orcid.org/0000-0002-7680-9354 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-310309
DOI:	10.1016/j.cellsig.2020.109789
Journal or Publication Title:	Cell. Signal.
Volume:	76
Date:	2020
Publisher:	ELSEVIER SCIENCE INC
Place of Publication:	NEW YORK
ISSN:	1873-3913
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GROWTH-FACTOR-BETA; EPITHELIUM-DERIVED FACTOR; SCLEROSTIN ANTIBODY TREATMENT; INTEGRIN-LINKED KINASE; BONE MORPHOGENETIC PROTEINS; OSTEOBLAST-LINEAGE CELLS; MESENCHYMAL STEM-CELLS; ER STRESS TRANSDUCERS; NF-KAPPA-B; MOUSE MODEL Multiple languages Cell Biology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31030